K12N (p.Lys12Asn) variant of JUP (Junction plakoglobin)
K12N (p.Lys12Asn) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- rs2544217465
- ClinGen CA399507264
- ClinVar RCV004513428
- ClinVar RCV006564822
- Uncertain significance
- Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ventricular dyspla
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Naxos disease; Arrhythmogenic right ve)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)